ClinVar Miner

Submissions for variant NM_005267.5(GJA8):c.1126G>A (p.Gly376Arg)

dbSNP: rs782314953
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001045156 SCV001208991 uncertain significance Cataract 1 multiple types 2019-11-20 criteria provided, single submitter clinical testing This variant is present in population databases (rs782314953, ExAC 0.002%). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The arginine amino acid residue is found in multiple mammalian species, suggesting that this missense change does not adversely affect protein function. These predictions have not been confirmed by published functional studies and their clinical significance is uncertain. This variant has not been reported in the literature in individuals with GJA8-related conditions. This sequence change replaces glycine with arginine at codon 376 of the GJA8 protein (p.Gly376Arg). The glycine residue is weakly conserved and there is a moderate physicochemical difference between glycine and arginine.

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